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Am J Clin Pathol. 2017 Jul 1;148(1):64-72. doi: 10.1093/ajcp/aqx046.

Frequency and Clinicopathologic Features of RUNX1 Mutations in Patients With Acute Myeloid Leukemia Not Otherwise Specified.

Author information

1
Departments of Laboratory Medicine.
2
Internal Medicine.
3
Pediatrics.
4
Asan Institute for Life Sciences, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.

Abstract

Objectives:

To evaluate the frequency and clinicopathologic characteristics of RUNX1 mutations, focusing on patients with acute myeloid leukemia not otherwise specified (AML NOS).

Methods:

Diagnostic samples from 219 patients with AML NOS were analyzed for RUNX1 mutations using standard polymerase chain reaction and direct sequencing.

Results:

Thirty-one RUNX1 mutations were detected in 33 (15.1%) patients. Mutations clustered in the Runt homology (61.3%) and transactivation domains (25.8%). Frameshift mutations were most common (51.6%), followed by missense (41.9%) and nonsense (6.5%) mutations. Patients with RUNX1 mutations had a lower platelet count (P = .013) and shorter relapse-free survival (P = .045) than those without. The presence of RUNX1 and NPM1 or CEBPA mutations was mutually exclusive. A literature review, including our study, showed that patients with RUNX1 mutations were associated with intermediate risk; coexisting mutations such as FLT3-ITD, ASXL1, TET2, and DNMT3A; and a relatively cytogenetic heterogeneity.

Conclusions:

Our findings strengthen previous data concerning RUNX1 mutations in AML and support the notion that RUNX1 mutational status should be integrated into a diagnostic workup of AML, particularly for AML NOS or an intermediate-risk group.

KEYWORDS:

Acute myeloid leukemia not otherwise specified; Clinicopathologic features; RUNX1 mutation

PMID:
28927163
DOI:
10.1093/ajcp/aqx046
[Indexed for MEDLINE]

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